CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Severe intellectual disability ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs202153551
rs202153551 		1.000 0.160 X 18650466 stop gained C/T snv 2.0E-04 6.6E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011